Pathology (Cardiovascular) Flashcards
What are the 3 main types and 1 less main type of cardiomyopathy?
Restrictive, dilated and hypertrophic. Other is arrhythmogenic right ventricular dysplasia.
Describe what the heart looks like in dilated cardiomyopathy.
2 or 3 times normal size, flabby or floppy.
What are the histology features of dilated cardiomyopathy?
Non-specific.
What types of genetic mutation causes dilated cardiomyopathy?
Autosomal dominant, autosomal recessive, X-linked, mitochondrial.
The genes that encode for what proteins are mutated in dilated cardiomyopathy.
Heart muscle proteins like desmin, dytrophin (muscular dystrophy).
What are the other causes of dilated cardiomyopathy?
Toxins, alcohol (unknown if direct ethanol toxicity of nutritional deficiencies), doxorubicin (chemotherapy agent, assess heart prior to commencing chemotherapy).
What are 2 rare causes of dilated cardiomyopathy?
Cardiac infection and pregnancy.
What are the clinical features of dilated cardiomyopathy?
General picture of heart failure: SOB, poor exercise tolerance, low ejection fraction.
Describe what the heart looks like in hypertrophic cardiomyopathy?
Big solid hearts, hypertrophic.
What causes diastolic dysfunction in hypertrophic cardiomyopathy?
Heart cannot relax and eventually outflow obstruction due to left ventricular wall enlarging?
What is hypertrophic cardiomyopathy a cause of in athletes?
Sudden death.
What genes may be mutated in hypertrophic cardiomyopathy?
Beta myosin heavy chain, myosin binding protein, alpha tropomyosin.
What are the histological features of hypertrophic cardiomyopathy?
Disorganised myofibres.
What type of dysfunction does restrictive cardiomyopathy have?
Diastolic dysfunction.
Describe the heart in restrictive cardiomyopathy.
Stiff.
What happens to the atria as a result of restrictive cardiomyopathy?
Dilatation as a result of back pressure.
What are the causes of restrictive cardiomyopathy?
Deposition of something in the myocardium: metabolic byproducts e.g. iron, amyloid, sarcoid (granulomas), tumours, fibrosis following radiation.
What is amyloid?
Abnormal deposition of an abnormal protein.
What do the abnormal proteins in amyloid tend to form?
Beta pleated sheets.
How would you find out the cause of a restrictive cardiomyopathy?
Biopsy.
What are the classifications of amyloid?
- AA (related to chronic diseases like rheumatoid).
- AL (light chains, abnormal Ig).
- Haemodyalysis associated (beta 2 microglobulin).
- Diabetes.
- Alzheimer’s
Give an example of a type of amyloid that is isolated in the heart?
Senile cardiac amyloidosis.
What is they histological appearance of amyloid?
Waxy pink material, stains positively for congo red, exhibits apple green birefringence.
Where is amyloid often seen affecting at autopsy, and what does this cause in a living person?
The conduction pathway. Arrhythmogenic death.
What is arrhythmogenic right ventricular dysplasia and why is it hard to detect?
Right ventricle gets largely replaced by fat. The right ventricle always looks a bit fatty.
What is the type of genetic disease that gives you arrhythmogenic right ventricular dysplasia?
Autosomal dominant with low penetrance.